Amanda K. Ombrello

Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora et al. · New England Journal of Medicine · 2020 · 1.1K citations · Full text

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 871 citations · Full text

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Qing Zhou, Hongying Wang, Daniella M. Schwartz et al. · Nature Genetics · 2015 · 601 citations · Full text

Inflammation, Rheumatology, A20 Haploinsufficiency Cause +14

CD4/CD8 T-Cell Selection Affects Chimeric Antigen Receptor (CAR) T-Cell Potency and Toxicity: Updated Results From a Phase I Anti-CD22 CAR T-Cell Trial

Nirali N. Shah, Steven L. Highfill, Haneen Shalabi et al. · Journal of Clinical Oncology · 2020 · 400 citations · Full text

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

Qing Zhou, Geun‐Shik Lee, Jillian Brady et al. · The American Journal of Human Genetics · 2012 · 370 citations · Full text

Encoding Phospholipase Cγ2, Signal Transduction, Disease Mechanism +10